Incidental Mutation 'R2007:Pik3c2a'
ID 222499
Institutional Source Beutler Lab
Gene Symbol Pik3c2a
Ensembl Gene ENSMUSG00000030660
Gene Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
Synonyms PI3KC2
MMRRC Submission 040016-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2007 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 115936500-116042684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115941472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1598 (T1598I)
Ref Sequence ENSEMBL: ENSMUSP00000146181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000206219]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000170430
AA Change: T1598I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660
AA Change: T1598I

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 361 372 N/A INTRINSIC
PI3K_rbd 410 513 3.08e-38 SMART
PI3K_C2 674 783 2.71e-34 SMART
PI3Ka 860 1047 3.62e-85 SMART
PI3Kc 1134 1396 3.1e-125 SMART
PX 1422 1534 5.68e-30 SMART
C2 1573 1677 3.93e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205941
Predicted Effect probably damaging
Transcript: ENSMUST00000206219
AA Change: T1598I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206248
Predicted Effect probably benign
Transcript: ENSMUST00000206385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206805
Meta Mutation Damage Score 0.1444 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (66/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,519,855 (GRCm39) N1387K probably benign Het
Abca13 T C 11: 9,141,987 (GRCm39) F8L probably benign Het
Abcg5 G T 17: 84,977,348 (GRCm39) L270M probably damaging Het
Acad10 A G 5: 121,772,814 (GRCm39) L489S probably damaging Het
Acsf2 G A 11: 94,462,466 (GRCm39) T183I possibly damaging Het
Adamts7 A T 9: 90,059,909 (GRCm39) E282V probably damaging Het
Adcy4 C T 14: 56,015,770 (GRCm39) G440R possibly damaging Het
AI429214 G A 8: 37,460,923 (GRCm39) V24I probably benign Het
Angptl3 T C 4: 98,925,634 (GRCm39) I320T probably damaging Het
Apoa5 A T 9: 46,181,665 (GRCm39) Q247L possibly damaging Het
Astn1 T G 1: 158,436,875 (GRCm39) V811G probably damaging Het
Bard1 C T 1: 71,070,562 (GRCm39) V641I probably benign Het
Calb2 T C 8: 110,894,702 (GRCm39) E23G probably benign Het
Cdkl4 A G 17: 80,863,730 (GRCm39) probably benign Het
Cep85l A G 10: 53,154,171 (GRCm39) probably benign Het
Cfap91 T C 16: 38,118,616 (GRCm39) I728V probably benign Het
Chd1 G T 17: 15,951,268 (GRCm39) G281V probably damaging Het
Col17a1 C T 19: 47,656,141 (GRCm39) G586E probably damaging Het
Cpne3 T A 4: 19,553,833 (GRCm39) D66V probably damaging Het
Csde1 A T 3: 102,952,107 (GRCm39) I204L probably damaging Het
Dchs1 A T 7: 105,404,532 (GRCm39) V2670E probably damaging Het
Ddx10 A G 9: 53,124,578 (GRCm39) V428A probably benign Het
Dgkh T A 14: 78,840,489 (GRCm39) D530V probably benign Het
Dis3l A T 9: 64,215,558 (GRCm39) probably null Het
Dst T G 1: 34,265,093 (GRCm39) probably benign Het
Eml6 C T 11: 29,798,814 (GRCm39) probably null Het
En1 A T 1: 120,531,133 (GRCm39) E124D probably benign Het
Exo1 G A 1: 175,736,096 (GRCm39) E827K probably damaging Het
Fktn T C 4: 53,735,099 (GRCm39) F246L possibly damaging Het
Fndc1 G A 17: 7,997,580 (GRCm39) probably benign Het
Foxp2 G A 6: 15,396,818 (GRCm39) C381Y probably damaging Het
Galnt6 A T 15: 100,595,047 (GRCm39) Y485N probably damaging Het
Gemin4 G A 11: 76,103,444 (GRCm39) A439V possibly damaging Het
Gpatch8 A G 11: 102,391,657 (GRCm39) I155T unknown Het
Hmcn2 A G 2: 31,328,267 (GRCm39) D4316G possibly damaging Het
Hnrnpr T A 4: 136,046,824 (GRCm39) probably benign Het
Hpx G A 7: 105,244,781 (GRCm39) R135C probably damaging Het
Khdrbs2 T G 1: 32,559,629 (GRCm39) E151A probably benign Het
Krt6b A T 15: 101,586,562 (GRCm39) L309H probably damaging Het
Lce1c G T 3: 92,587,765 (GRCm39) C64F unknown Het
Marchf6 C T 15: 31,462,087 (GRCm39) probably null Het
Myt1 C A 2: 181,437,552 (GRCm39) R88S probably benign Het
Nemp1 A G 10: 127,529,446 (GRCm39) S194G probably benign Het
Nphp4 A G 4: 152,639,111 (GRCm39) K914R probably damaging Het
Or3a1 T A 11: 74,225,212 (GRCm39) T282S possibly damaging Het
Osbp T C 19: 11,951,265 (GRCm39) M270T probably benign Het
Parg T C 14: 31,932,531 (GRCm39) M457T possibly damaging Het
Phf20 T C 2: 156,129,874 (GRCm39) M482T probably benign Het
Pkd1 T C 17: 24,798,759 (GRCm39) M2689T probably damaging Het
Plxnd1 A T 6: 115,944,216 (GRCm39) V1091E probably damaging Het
Ptcd2 A T 13: 99,456,744 (GRCm39) L360Q probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Serpinc1 A T 1: 160,821,110 (GRCm39) T65S probably benign Het
Sipa1l2 G A 8: 126,166,176 (GRCm39) T1486I probably damaging Het
Snrnp200 T C 2: 127,068,968 (GRCm39) L949P probably damaging Het
Ssc5d T G 7: 4,931,628 (GRCm39) C278W probably damaging Het
Tbc1d14 T G 5: 36,728,718 (GRCm39) H216P possibly damaging Het
Tmem183a A G 1: 134,277,861 (GRCm39) F301S probably damaging Het
Tmem233 A C 5: 116,189,496 (GRCm39) N94K possibly damaging Het
Tmprss13 A G 9: 45,243,843 (GRCm39) D193G probably damaging Het
Tprkb T C 6: 85,910,030 (GRCm39) probably benign Het
Tram1l1 A G 3: 124,115,488 (GRCm39) H216R possibly damaging Het
Ttn A G 2: 76,564,484 (GRCm39) V28551A probably damaging Het
Ubtfl1 A G 9: 18,320,547 (GRCm39) N25S possibly damaging Het
Unc80 C A 1: 66,542,935 (GRCm39) N396K probably damaging Het
Vmn1r171 T C 7: 23,332,012 (GRCm39) L79P probably damaging Het
Vmn2r115 G T 17: 23,566,927 (GRCm39) V480F possibly damaging Het
Xpo4 T C 14: 57,824,101 (GRCm39) I995V probably null Het
Other mutations in Pik3c2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Pik3c2a APN 7 115,975,518 (GRCm39) missense possibly damaging 0.50
IGL00732:Pik3c2a APN 7 115,963,735 (GRCm39) missense possibly damaging 0.82
IGL01303:Pik3c2a APN 7 115,973,038 (GRCm39) missense possibly damaging 0.94
IGL01443:Pik3c2a APN 7 116,017,429 (GRCm39) missense probably benign 0.01
IGL01462:Pik3c2a APN 7 115,975,485 (GRCm39) missense possibly damaging 0.94
IGL01641:Pik3c2a APN 7 115,950,000 (GRCm39) intron probably benign
IGL01695:Pik3c2a APN 7 116,016,753 (GRCm39) missense possibly damaging 0.82
IGL02095:Pik3c2a APN 7 115,945,423 (GRCm39) missense probably damaging 1.00
IGL02137:Pik3c2a APN 7 115,950,039 (GRCm39) missense probably benign 0.00
IGL02160:Pik3c2a APN 7 115,987,299 (GRCm39) missense probably damaging 1.00
IGL02224:Pik3c2a APN 7 115,962,575 (GRCm39) splice site probably benign
IGL02345:Pik3c2a APN 7 116,005,126 (GRCm39) missense probably damaging 1.00
IGL02644:Pik3c2a APN 7 115,972,049 (GRCm39) missense probably benign 0.00
IGL02756:Pik3c2a APN 7 115,963,748 (GRCm39) missense probably benign 0.01
IGL03339:Pik3c2a APN 7 116,017,256 (GRCm39) missense possibly damaging 0.57
IGL03412:Pik3c2a APN 7 116,017,074 (GRCm39) missense probably benign 0.21
R0046:Pik3c2a UTSW 7 115,953,307 (GRCm39) missense probably damaging 1.00
R0387:Pik3c2a UTSW 7 115,972,979 (GRCm39) missense probably damaging 1.00
R0501:Pik3c2a UTSW 7 115,953,290 (GRCm39) missense probably damaging 1.00
R0650:Pik3c2a UTSW 7 115,945,482 (GRCm39) splice site probably benign
R0991:Pik3c2a UTSW 7 115,961,280 (GRCm39) critical splice donor site probably null
R1074:Pik3c2a UTSW 7 115,950,160 (GRCm39) nonsense probably null
R1485:Pik3c2a UTSW 7 116,016,908 (GRCm39) missense possibly damaging 0.50
R1495:Pik3c2a UTSW 7 115,987,300 (GRCm39) missense probably benign 0.01
R1510:Pik3c2a UTSW 7 115,987,280 (GRCm39) missense probably benign 0.00
R1654:Pik3c2a UTSW 7 115,968,083 (GRCm39) missense probably benign 0.02
R1711:Pik3c2a UTSW 7 116,017,162 (GRCm39) nonsense probably null
R1733:Pik3c2a UTSW 7 116,017,755 (GRCm39) start codon destroyed possibly damaging 0.96
R1751:Pik3c2a UTSW 7 115,945,471 (GRCm39) missense probably damaging 0.98
R1812:Pik3c2a UTSW 7 116,016,899 (GRCm39) missense probably damaging 0.98
R1817:Pik3c2a UTSW 7 115,975,747 (GRCm39) critical splice donor site probably null
R1826:Pik3c2a UTSW 7 115,967,352 (GRCm39) missense probably benign
R1875:Pik3c2a UTSW 7 116,017,206 (GRCm39) missense probably benign 0.35
R1995:Pik3c2a UTSW 7 115,953,241 (GRCm39) missense probably damaging 1.00
R2009:Pik3c2a UTSW 7 115,963,738 (GRCm39) missense probably damaging 1.00
R2013:Pik3c2a UTSW 7 115,950,166 (GRCm39) critical splice acceptor site probably null
R2014:Pik3c2a UTSW 7 115,950,166 (GRCm39) critical splice acceptor site probably null
R2015:Pik3c2a UTSW 7 115,950,166 (GRCm39) critical splice acceptor site probably null
R2027:Pik3c2a UTSW 7 115,950,057 (GRCm39) missense probably damaging 1.00
R2050:Pik3c2a UTSW 7 116,016,686 (GRCm39) critical splice donor site probably null
R2068:Pik3c2a UTSW 7 115,972,126 (GRCm39) nonsense probably null
R3814:Pik3c2a UTSW 7 115,947,414 (GRCm39) missense probably damaging 1.00
R3848:Pik3c2a UTSW 7 115,963,785 (GRCm39) nonsense probably null
R4386:Pik3c2a UTSW 7 115,953,334 (GRCm39) missense probably damaging 1.00
R4668:Pik3c2a UTSW 7 115,957,923 (GRCm39) missense probably benign 0.16
R4783:Pik3c2a UTSW 7 116,017,060 (GRCm39) missense probably damaging 1.00
R4860:Pik3c2a UTSW 7 115,939,391 (GRCm39) missense probably damaging 1.00
R4860:Pik3c2a UTSW 7 115,939,391 (GRCm39) missense probably damaging 1.00
R5057:Pik3c2a UTSW 7 115,975,518 (GRCm39) missense possibly damaging 0.50
R5080:Pik3c2a UTSW 7 115,947,509 (GRCm39) missense probably damaging 1.00
R5083:Pik3c2a UTSW 7 115,941,636 (GRCm39) missense probably damaging 1.00
R5144:Pik3c2a UTSW 7 115,950,021 (GRCm39) missense probably benign 0.01
R5589:Pik3c2a UTSW 7 116,016,893 (GRCm39) missense probably benign 0.02
R5646:Pik3c2a UTSW 7 116,005,186 (GRCm39) missense probably damaging 1.00
R5829:Pik3c2a UTSW 7 115,972,049 (GRCm39) missense probably benign 0.00
R5951:Pik3c2a UTSW 7 115,967,419 (GRCm39) missense probably damaging 0.96
R5958:Pik3c2a UTSW 7 115,961,799 (GRCm39) missense probably damaging 1.00
R6356:Pik3c2a UTSW 7 115,947,440 (GRCm39) missense possibly damaging 0.46
R6551:Pik3c2a UTSW 7 116,016,731 (GRCm39) missense probably damaging 0.97
R6641:Pik3c2a UTSW 7 115,939,460 (GRCm39) critical splice acceptor site probably null
R6661:Pik3c2a UTSW 7 115,967,993 (GRCm39) missense possibly damaging 0.77
R6789:Pik3c2a UTSW 7 115,961,419 (GRCm39) missense probably damaging 1.00
R6874:Pik3c2a UTSW 7 115,993,540 (GRCm39) missense probably damaging 1.00
R6985:Pik3c2a UTSW 7 116,017,223 (GRCm39) missense probably damaging 0.98
R7106:Pik3c2a UTSW 7 116,017,368 (GRCm39) nonsense probably null
R7153:Pik3c2a UTSW 7 115,941,487 (GRCm39) missense probably damaging 1.00
R7176:Pik3c2a UTSW 7 115,987,331 (GRCm39) missense possibly damaging 0.47
R7265:Pik3c2a UTSW 7 115,987,321 (GRCm39) missense probably damaging 1.00
R7303:Pik3c2a UTSW 7 116,005,178 (GRCm39) missense probably benign 0.00
R7308:Pik3c2a UTSW 7 115,973,074 (GRCm39) missense probably damaging 1.00
R7375:Pik3c2a UTSW 7 115,975,621 (GRCm39) missense probably damaging 1.00
R7406:Pik3c2a UTSW 7 115,953,242 (GRCm39) missense probably damaging 1.00
R7426:Pik3c2a UTSW 7 115,972,089 (GRCm39) missense probably damaging 1.00
R7528:Pik3c2a UTSW 7 115,993,474 (GRCm39) missense probably damaging 1.00
R7539:Pik3c2a UTSW 7 115,939,331 (GRCm39) missense probably damaging 0.97
R7684:Pik3c2a UTSW 7 115,987,312 (GRCm39) nonsense probably null
R7737:Pik3c2a UTSW 7 115,955,488 (GRCm39) missense probably damaging 0.99
R7739:Pik3c2a UTSW 7 115,993,529 (GRCm39) missense probably benign 0.26
R7852:Pik3c2a UTSW 7 116,016,693 (GRCm39) missense probably benign
R7922:Pik3c2a UTSW 7 115,990,517 (GRCm39) missense probably damaging 1.00
R7956:Pik3c2a UTSW 7 115,949,350 (GRCm39) missense probably benign 0.01
R8005:Pik3c2a UTSW 7 116,017,271 (GRCm39) missense probably damaging 1.00
R8158:Pik3c2a UTSW 7 115,942,232 (GRCm39) missense probably benign 0.00
R8329:Pik3c2a UTSW 7 116,017,283 (GRCm39) missense probably damaging 1.00
R8478:Pik3c2a UTSW 7 116,017,584 (GRCm39) missense probably damaging 0.96
R8736:Pik3c2a UTSW 7 115,975,464 (GRCm39) missense possibly damaging 0.47
R8812:Pik3c2a UTSW 7 115,951,112 (GRCm39) missense probably damaging 1.00
R8922:Pik3c2a UTSW 7 116,017,659 (GRCm39) missense probably damaging 1.00
R8953:Pik3c2a UTSW 7 115,987,320 (GRCm39) missense probably benign 0.19
R9105:Pik3c2a UTSW 7 115,972,049 (GRCm39) missense probably benign 0.00
R9111:Pik3c2a UTSW 7 115,993,531 (GRCm39) missense probably damaging 0.99
R9152:Pik3c2a UTSW 7 116,017,004 (GRCm39) missense probably benign 0.30
R9241:Pik3c2a UTSW 7 116,017,115 (GRCm39) missense probably benign 0.02
R9301:Pik3c2a UTSW 7 115,945,413 (GRCm39) missense probably damaging 1.00
R9325:Pik3c2a UTSW 7 115,990,558 (GRCm39) missense probably damaging 0.99
R9482:Pik3c2a UTSW 7 115,961,289 (GRCm39) missense probably benign 0.04
R9513:Pik3c2a UTSW 7 115,939,321 (GRCm39) missense probably benign 0.06
R9569:Pik3c2a UTSW 7 115,957,939 (GRCm39) missense possibly damaging 0.89
R9758:Pik3c2a UTSW 7 115,945,427 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATACTGTTCAGCTCACGTGG -3'
(R):5'- CGAAATGGCACCCTCTTCATC -3'

Sequencing Primer
(F):5'- GGGTTCAATTCTCATCAGCTACAGG -3'
(R):5'- ATGGCACCCTCTTCATCATGGTG -3'
Posted On 2014-08-25